WNK4 c.506C>T ;(p.P169L)

Variant ID: 17-40933222-C-T

NM_032387.4(WNK4):c.506C>T;(p.P169L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Utility of Genomic Testing after Renal Biopsy.

American Journal Of Nephrology
Murray, Susan L SL; Dorman, Anthony A; Benson, Katherine A KA; Connaughton, Dervla M DM; Stapleton, Caragh P CP; Fennelly, Neil K NK; Kennedy, Claire C; McDonnell, Ciara A CA; Kidd, Kendrah K; Cormican, Sarah M SM; Ryan, Louise A LA; Lavin, Peter P; Little, Mark A MA; Bleyer, Anthony J AJ; Doyle, Brendan B; Cavalleri, Gianpiero L GL; Hildebrandt, Friedhelm F; Conlon, Peter J PJ
Publication Date: 2020

Variant appearance in text: WNK4: 506C>T; Pro169Leu
PubMed Link: 31822006
Variant Present in the following documents:
  • Main text
View BVdb publication page



Monogenic causes of chronic kidney disease in adults.

Kidney International
Connaughton, Dervla M DM; Kennedy, Claire C; Shril, Shirlee S; Mann, Nina N; Murray, Susan L SL; Williams, Patrick A PA; Conlon, Eoin E; Nakayama, Makiko M; van der Ven, Amelie T AT; Ityel, Hadas H; Kause, Franziska F; Kolvenbach, Caroline M CM; Dai, Rufeng R; Vivante, Asaf A; Braun, Daniela A DA; Schneider, Ronen R; Kitzler, Thomas M TM; Moloney, Brona B; Moran, Conor P CP; Smyth, John S JS; Kennedy, Alan A; Benson, Katherine K; Stapleton, Caragh C; Denton, Mark M; Magee, Colm C; O'Seaghdha, Conall M CM; Plant, William D WD; Griffin, Matthew D MD; Awan, Atif A; Sweeney, Clodagh C; Mane, Shrikant M SM; Lifton, Richard P RP; Griffin, Brenda B; Leavey, Sean S; Casserly, Liam L; de Freitas, Declan G DG; Holian, John J; Dorman, Anthony A; Doyle, Brendan B; Lavin, Peter J PJ; Little, Mark A MA; Conlon, Peter J PJ; Hildebrandt, Friedhelm F
Publication Date: 2019-04

Variant appearance in text: WNK4: 506C>T; Pro169Leu
PubMed Link: 30773290
Variant Present in the following documents:
  • Main text
View BVdb publication page